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4241
Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance
Published 2021-06-01“…On the molecular level, incident cancers presented with a significantly lower <i>KRAS</i> codon 12/13 (1/23, 4.3% vs. 11/21, 52%; <i>p</i> = 0.0005) and pathogenic <i>TP53</i> mutation frequency (0/17, 0% vs. 7/21, 33.3%; <i>p</i> = 0.0108,) compared to prevalent cancers; 10/17 (58.8%) incident cancers harbored one or more truncating <i>APC</i> mutations, all showing mutational signatures of mismatch repair (MMR) deficiency. …”
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4242
Base editing-mediated one-step inactivation of the Dnmt gene family reveals critical roles of DNA methylation during mouse gastrulation
Published 2023-05-01“…Here, we establish a system of simultaneous inactivation of multiple endogenous genes in zygotes through screening for base editors that can efficiently introduce a stop codon. Embryos with mutations in Dnmts and/or Tets can be generated in one step with IMGZ. …”
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4243
Synthetic refactor of essential genes decodes functionally constrained sequences in yeast genome
Published 2022-09-01“…The coding sequences were synonymously recoded with all optimal codons to explore the importance of codon choice. …”
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4244
Efficient and error-free correction of sickle mutation in human erythroid cells using prime editor-2
Published 2022-12-01“…Sickle cell anaemia (SCA) is one of the common autosomal recessive monogenic disorders, caused by a transverse point mutation (GAG > GTG) at the sixth codon of the beta-globin gene, which results in haemolytic anaemia due to the fragile RBCs. …”
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4245
Brittle culm 3, encoding a cellulose synthase subunit 5, is required for cell wall biosynthesis in barley (Hordeum vulgare L.)
Published 2022-11-01“…Genetic analysis and map-based cloning revealed that the bc3 mutant was controlled by a single recessive gene and harbored a point mutation in the HvCESA5 gene, generating a premature stop codon near the N-terminal of the protein. Quantitative real-time PCR (qRT-PCR) analysis showed that the HvCESA5 gene is predominantly expressed in the culms and co-expressed with HvCESA4 and HvCESA8, consistent with the brittle culm phenotype of the bc3 mutant. …”
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4246
<i>KRAS, NRAS, BRAF, HER2</i> and MSI Status in a Large Consecutive Series of Colorectal Carcinomas
Published 2023-03-01“…<i>BRAF</i> mutations were identified in 556/8355 (6.7%) CRCs (codon 600: 510; codons 594–596: 38; codons 597–602: 8). …”
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4247
Induction of Male Sterility by Targeted Mutation of a Restorer-of-Fertility Gene with CRISPR/Cas9-Mediated Genome Editing in <i>Brassica napus</i> L.
Published 2022-12-01“…Such as a high non-synonymous/synonymous codon replacement ratio (dN/dS), autonomous gene duplications, and a possible engrossment in fertility restoration. …”
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4248
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells
Published 2015-12-01“…PKDiPSCs were gene edited to integrate a partial codon-optimized R-type pyruvate kinase cDNA in the second intron of the PKLR gene by TALEN-mediated homologous recombination (HR). …”
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4249
Persistent Nonviral Plasmid Vector in Nasal Tissues Causes False-Positive SARS-CoV-2 Diagnostic Nucleic Acid Tests
Published 2022-12-01“…However, nucleic acids extracted from these nasal swabs amplified DNA regions of the plasmid vector used by the coworkers, including the ampicillin and neomycin/kanamycin resistance genes, the promoter-nucleocapsid junction, and unique codon-optimized regions. Nasal swabs from these individuals tested positive repeatedly, including during isolation. …”
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4250
RNA editing events and expression profiles of mitochondrial protein-coding genes in the endemic and endangered medicinal plant, Corydalis saxicola
Published 2024-02-01“…The mt genome of C. saxicola is represented by a circular chromosome which is 587,939 bp in length, with an overall GC content of 46.50%. 40 unique protein-coding genes (PCGs), 22 tRNA genes and three rRNA genes were identified. Codon usage of the PCGs was investigated and 167 simple sequence repeats were identified. …”
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4251
MIELOFIBROSE PÓS-POLICITEMIA VERA COM MUTAÇÃO NO EXON 12: RELATO DE CASO
Published 2023-10-01“…A maioria das mutações de JAK2 ocorre no códon 617 (V617F), em aproximadamente 96% dos casos. …”
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4252
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaResearch in context
Published 2023-12-01“…Findings: Variants associated with chronic progressive ataxia either decreased Na+ current densities and shifted activation curves towards more depolarized potentials (p.Asn995Asp, p.Lys1498Glu and p.Trp1266Cys) or resulted in a premature stop codon (p.Trp937Ter). Three variants (p.Arg847Gln and biallelic p.Arg191Trp/p.Asp1525Tyr) were associated with episodic ataxia causing loss-of-function by decreasing Na+ current densities or a hyperpolarizing shift of the inactivation curve. …”
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4253
DIAGNÓSTICO MOLECULAR DE BETA TALASSEMIA INTERMÉDIA: RELATO DE HETEROZIGOTO COMPOSTO PARA MUTAÇÃO HBB:C.118C>T (CD39) E HBB:C.-138C>T (-88C>T)
Published 2023-10-01“…Discussão: Na mutação CD39 um códon de parada é gerado impedindo a tradução eficaz do RNAm do gene HBB, o que leva ao fenótipo β0. …”
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4254
A 66 amino acid micro-peptide encoded by long non-coding RNA RP11-119F7.5 was identified in hepatocellular carcinoma
Published 2022-12-01“…We obtained the full length of the four gene sequences from the UCSC database and analyzed the open reading frames by ORF Finder; to determine the translation potential of the four candidate small open reading frames (smORFs), we subcloned a FLAG epitope tag into the C-terminal of the four selected smORFs before the stop codon, and the fusion sequences were then cloned into three different plasmid vectors (pSPT19, pcDNA3.1, and PEGFP-N1). …”
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4255
Evaluation of genome and base editing tools in maize protoplasts
Published 2022-11-01“…Phenotypic analysis of base edited mutant maize plants demonstrated that the introduction of a stop codon but not the mutation of a serine predicted to be phosphorylated in the bHLH (basic helix loop helix) transcription factor ZmICEa (INDUCER OF CBF EXPRESSIONa) caused abnormal stomata, pale leaves and eventual plant death two months after sowing.…”
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4256
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease
Published 2023-09-01“…A midigene splice assay in HEK293T cells revealed the inclusion of the last 47 nucleotides of intron 47 creating a premature stop codon and allowed to categorize the variant as moderately severe. …”
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4257
Building a eukaryotic chromosome arm by de novo design and synthesis
Published 2023-11-01“…Next, we demonstrate that these genes can be reconstructed individually using synthetic regulatory sequences and recoded open-reading frames with a “one-amino-acid-one-codon” strategy to remain functional. Finally, a synthetic neochromsome with the reconstructed genes is assembled which could substitute chrXIIL for viability. …”
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4258
The collagen type I alpha 1 chain gene is an alternative safe harbor locus in the porcine genome
Published 2023-01-01“…After the knock-in of a 2A peptide-green fluorescence protein (2A-GFP) transgene in the last codon of COL1A1 in multiple porcine cells, including porcine kidney epithelial (PK15), porcine embryonic fibroblast (PEF) and porcine intestinal epithelial (IPI-2I) cells, quantitative PCR (qPCR), Western blotting, RNA-seq and CCK8 assay were performed to assess the safety of COL1A1 locus. …”
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4259
Hypo- and Hyper-Virulent <i>Listeria monocytogenes</i> Clones Persisting in Two Different Food Processing Plants of Central Italy
Published 2021-02-01“…All the CC2 carried a full-length <i>inlA</i> while CC9 and CC121 presented a Premature Stop Codon mutation correlated with less virulence. The hypo-virulent clones CC9 and CC121 appeared the most adapted to food-processing environments; however, even the hyper-virulent clone CC2 warningly persisted for a long time. …”
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4260
Q1291H-CFTR molecular dynamics simulations and ex vivo theratyping in nasal epithelial models and clinical response to elexacaftor/tezacaftor/ivacaftor in a Q1291H/F508del patient
Published 2023-06-01“…Q1291H CFTR incurs a splicing defect, producing both a normally spliced but mutant mRNA isoform and a misspliced isoform with a premature termination codon, causing nonsense mediated decay. The effectiveness of ETI in restoring Q1291H-CFTR is largely unknown.Methods: We collected clinical endpoint measurements, including forced expiratory volume in 1 s percent predicted (FEV1pp) and body mass index (BMI), and examined medical history. …”
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